If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 4 | 1 | 128 | 95 | 40 | 261 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ZFPM2 | 4 | 1 | 78 | 69 | 29 | 174 |
| LOC126860469, ZFPM2 | 0 | 0 | 50 | 26 | 11 | 87 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 0 | 120 | 92 | 40 | 253 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 7 | 1 | 1 | 9 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 2 | 1 | 0 | 3 |
| Mendelics | 0 | 0 | 1 | 1 | 1 | 3 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 2 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 1 | 0 | 0 | 0 | 1 |